Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review.
Daniele Guadagnolo, Gioia Mastromoro, Francesca Di Palma, Antonio Pizzuti, Enrica Marchionni. Diagnostics (Basel) 2021
Times Cited: 4
Times Cited: 4
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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Jenny Lord, Dominic J McMullan, Ruth Y Eberhardt, Gabriele Rinck, Susan J Hamilton, Elizabeth Quinlan-Jones, Elena Prigmore, Rebecca Keelagher, Sunayna K Best, Georgina K Carey,[...]. Lancet 2019
Jenny Lord, Dominic J McMullan, Ruth Y Eberhardt, Gabriele Rinck, Susan J Hamilton, Elizabeth Quinlan-Jones, Elena Prigmore, Rebecca Keelagher, Sunayna K Best, Georgina K Carey,[...]. Lancet 2019
75
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
Slavé Petrovski, Vimla Aggarwal, Jessica L Giordano, Melissa Stosic, Karen Wou, Louise Bier, Erica Spiegel, Kelly Brennan, Nicholas Stong, Vaidehi Jobanputra,[...]. Lancet 2019
Slavé Petrovski, Vimla Aggarwal, Jessica L Giordano, Melissa Stosic, Karen Wou, Louise Bier, Erica Spiegel, Kelly Brennan, Nicholas Stong, Vaidehi Jobanputra,[...]. Lancet 2019
75
Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies.
Lena Sagi-Dain, Lital Cohen Vig, Sarit Kahana, Shiri Yacobson, Tamar Tenne, Ifat Agmon-Fishman, Cochava Klein, Reut Matar, Lina Basel-Salmon, Idit Maya. Genet Med 2019
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75
Chromosomal microarray versus karyotyping for prenatal diagnosis.
Ronald J Wapner, Christa Lese Martin, Brynn Levy, Blake C Ballif, Christine M Eng, Julia M Zachary, Melissa Savage, Lawrence D Platt, Daniel Saltzman, William A Grobman,[...]. N Engl J Med 2012
Ronald J Wapner, Christa Lese Martin, Brynn Levy, Blake C Ballif, Christine M Eng, Julia M Zachary, Melissa Savage, Lawrence D Platt, Daniel Saltzman, William A Grobman,[...]. N Engl J Med 2012
50
Outcome of isolated agenesis of the corpus callosum: A population-based prospective study.
Vincent des Portes, Anne Rolland, Juan Velazquez-Dominguez, Emeline Peyric, Marie-Pierre Cordier, Pascal Gaucherand, Jérôme Massardier, Mona Massoud, Aurore Curie, Anne-Sophie Pellot,[...]. Eur J Paediatr Neurol 2018
Vincent des Portes, Anne Rolland, Juan Velazquez-Dominguez, Emeline Peyric, Marie-Pierre Cordier, Pascal Gaucherand, Jérôme Massardier, Mona Massoud, Aurore Curie, Anne-Sophie Pellot,[...]. Eur J Paediatr Neurol 2018
50
Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing.
Jia Zhou, Ziying Yang, Jun Sun, Lipei Liu, Xinyao Zhou, Fengxia Liu, Ya Xing, Shuge Cui, Shiyi Xiong, Xiaoyu Liu,[...]. Genes (Basel) 2021
Jia Zhou, Ziying Yang, Jun Sun, Lipei Liu, Xinyao Zhou, Fengxia Liu, Ya Xing, Shuge Cui, Shiyi Xiong, Xiaoyu Liu,[...]. Genes (Basel) 2021
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Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis.
Kwong Wai Choy, Huilin Wang, Mengmeng Shi, Jingsi Chen, Zhenjun Yang, Rui Zhang, Huanchen Yan, Yanfang Wang, Shaoyun Chen, Matthew Hoi Kin Chau,[...]. Front Genet 2019
Kwong Wai Choy, Huilin Wang, Mengmeng Shi, Jingsi Chen, Zhenjun Yang, Rui Zhang, Huanchen Yan, Yanfang Wang, Shaoyun Chen, Matthew Hoi Kin Chau,[...]. Front Genet 2019
50
Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis.
S C Hillman, D J McMullan, G Hall, F S Togneri, N James, E J Maher, C H Meller, D Williams, R J Wapner, E R Maher,[...]. Ultrasound Obstet Gynecol 2013
S C Hillman, D J McMullan, G Hall, F S Togneri, N James, E J Maher, C H Meller, D Williams, R J Wapner, E R Maher,[...]. Ultrasound Obstet Gynecol 2013
50
An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Neeta L Vora, Kelly Gilmore, Alicia Brandt, Chelsea Gustafson, Natasha Strande, Lori Ramkissoon, Emily Hardisty, Ann Katherine M Foreman, Kirk Wilhelmsen, Phillips Owen,[...]. Genet Med 2020
Neeta L Vora, Kelly Gilmore, Alicia Brandt, Chelsea Gustafson, Natasha Strande, Lori Ramkissoon, Emily Hardisty, Ann Katherine M Foreman, Kirk Wilhelmsen, Phillips Owen,[...]. Genet Med 2020
50
Prenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases.
Hsu P Chong, Susan Hamilton, Fionnuala Mone, Ka Wang Cheung, Fiona S Togneri, Rachel K Morris, Elizabeth Quinlan-Jones, Denise Williams, Stephanie Allen, Dominic J McMullan,[...]. Prenat Diagn 2019
Hsu P Chong, Susan Hamilton, Fionnuala Mone, Ka Wang Cheung, Fiona S Togneri, Rachel K Morris, Elizabeth Quinlan-Jones, Denise Williams, Stephanie Allen, Dominic J McMullan,[...]. Prenat Diagn 2019
50
Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia.
Zhiyong Zou, Linhuan Huang, Shaobin Lin, Zhiming He, Hui Zhu, Yi Zhang, Qun Fang, Yanmin Luo. Prenat Diagn 2018
Zhiyong Zou, Linhuan Huang, Shaobin Lin, Zhiming He, Hui Zhu, Yi Zhang, Qun Fang, Yanmin Luo. Prenat Diagn 2018
50
Universal Prenatal Chromosomal Microarray Analysis: Additive Value and Clinical Dilemmas in Fetuses with a Normal Karyotype.
Eran Bornstein, Sharon Berger, Sau W Cheung, Kristen T Maliszewski, Ankita Patel, Amber N Pursley, Erez Lenchner, Carlos Bacino, Arthur L Beaudet, Michael Y Divon. Am J Perinatol 2017
Eran Bornstein, Sharon Berger, Sau W Cheung, Kristen T Maliszewski, Ankita Patel, Amber N Pursley, Erez Lenchner, Carlos Bacino, Arthur L Beaudet, Michael Y Divon. Am J Perinatol 2017
50
Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features.
Yibo Chen, Qi Yu, Xiongying Mao, Wei Lei, Miaonan He, Wenbo Lu. Hum Genomics 2019
Yibo Chen, Qi Yu, Xiongying Mao, Wei Lei, Miaonan He, Wenbo Lu. Hum Genomics 2019
50
The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.
Jonathan L A Callaway, Lisa G Shaffer, Lyn S Chitty, Jill A Rosenfeld, John A Crolla. Prenat Diagn 2013
Jonathan L A Callaway, Lisa G Shaffer, Lyn S Chitty, Jill A Rosenfeld, John A Crolla. Prenat Diagn 2013
50
Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong.
Shirley S W Cheng, Kelvin Y K Chan, Kelphen K P Leung, Patrick K C Au, Wai-Keung Tam, Samuel K M Li, Ho-Ming Luk, Anita S Y Kan, Brian H Y Chung, Ivan F M Lo,[...]. Am J Med Genet C Semin Med Genet 2019
Shirley S W Cheng, Kelvin Y K Chan, Kelphen K P Leung, Patrick K C Au, Wai-Keung Tam, Samuel K M Li, Ho-Ming Luk, Anita S Y Kan, Brian H Y Chung, Ivan F M Lo,[...]. Am J Med Genet C Semin Med Genet 2019
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The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG).
Kristin G Monaghan, Natalia T Leach, Dawn Pekarek, Priya Prasad, Nancy C Rose. Genet Med 2020
Kristin G Monaghan, Natalia T Leach, Dawn Pekarek, Priya Prasad, Nancy C Rose. Genet Med 2020
50
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
Carin L Yates, Kristin G Monaghan, Deborah Copenheaver, Kyle Retterer, Julie Scuffins, Cathlin R Kucera, Bethany Friedman, Gabriele Richard, Jane Juusola. Genet Med 2017
Carin L Yates, Kristin G Monaghan, Deborah Copenheaver, Kyle Retterer, Julie Scuffins, Cathlin R Kucera, Bethany Friedman, Gabriele Richard, Jane Juusola. Genet Med 2017
50
Sexual function in adult patients with spina bifida and its impact on quality of life.
Jenny Lassmann, Francisco Garibay Gonzalez, Jeanne B Melchionni, Patrick S Pasquariello, Howard M Snyder. J Urol 2007
Jenny Lassmann, Francisco Garibay Gonzalez, Jeanne B Melchionni, Patrick S Pasquariello, Howard M Snyder. J Urol 2007
25
Cognitive functions in children with myelomeningocele without hydrocephalus.
Barbro Lindquist, Paul Uvebrant, Eva Rehn, Göran Carlsson. Childs Nerv Syst 2009
Barbro Lindquist, Paul Uvebrant, Eva Rehn, Göran Carlsson. Childs Nerv Syst 2009
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Decompression for Chiari malformation type II in individuals with myelomeningocele in the National Spina Bifida Patient Registry.
Irene Kim, Betsy Hopson, Inmaculada Aban, Elias B Rizk, Mark S Dias, Robin Bowman, Laurie L Ackerman, Michael D Partington, Heidi Castillo, Jonathan Castillo,[...]. J Neurosurg Pediatr 2018
Irene Kim, Betsy Hopson, Inmaculada Aban, Elias B Rizk, Mark S Dias, Robin Bowman, Laurie L Ackerman, Michael D Partington, Heidi Castillo, Jonathan Castillo,[...]. J Neurosurg Pediatr 2018
25
Fetal phenotypes emerge as genetic technologies become robust.
Kathryn J Gray, Louise E Wilkins-Haug, Nancy J Herrig, Neeta L Vora. Prenat Diagn 2019
Kathryn J Gray, Louise E Wilkins-Haug, Nancy J Herrig, Neeta L Vora. Prenat Diagn 2019
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Sonographic 'molar tooth' sign in the diagnosis of Joubert syndrome.
D Pugash, T Oh, K Godwin, A J Robinson, A Byrne, M I Van Allen, H Osiovich. Ultrasound Obstet Gynecol 2011
D Pugash, T Oh, K Godwin, A J Robinson, A Byrne, M I Van Allen, H Osiovich. Ultrasound Obstet Gynecol 2011
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Application of a novel prenatal vertical cranial biometric measurement can improve accuracy of microcephaly diagnosis in utero.
Z Leibovitz, C Shiran, K Haratz, M Tamarkin, L Gindes, L Schreiber, G Malinger, L Ben-Sira, D Lev, I Shapiro,[...]. Ultrasound Obstet Gynecol 2016
Z Leibovitz, C Shiran, K Haratz, M Tamarkin, L Gindes, L Schreiber, G Malinger, L Ben-Sira, D Lev, I Shapiro,[...]. Ultrasound Obstet Gynecol 2016
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Functional independence among young adults with spina bifida, in relation to hydrocephalus and level of lesion.
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Neuropsychological profile of agenesis of the corpus callosum: a systematic review.
Vanessa Siffredi, Vicki Anderson, Richard J Leventer, Megan M Spencer-Smith. Dev Neuropsychol 2013
Vanessa Siffredi, Vicki Anderson, Richard J Leventer, Megan M Spencer-Smith. Dev Neuropsychol 2013
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Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis.
Francesco D'Antonio, Giorgio Pagani, Alessandra Familiari, Asma Khalil, Tally-Lerman Sagies, Gustavo Malinger, Zvi Leibovitz, Catherine Garel, Marie Laure Moutard, Gianluigi Pilu,[...]. Pediatrics 2016
Francesco D'Antonio, Giorgio Pagani, Alessandra Familiari, Asma Khalil, Tally-Lerman Sagies, Gustavo Malinger, Zvi Leibovitz, Catherine Garel, Marie Laure Moutard, Gianluigi Pilu,[...]. Pediatrics 2016
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In utero MR imaging in fetuses at high risk of lissencephaly.
Fionn Williams, Paul D Griffiths. Br J Radiol 2017
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Prevalence of latex allergy in a population of patients diagnosed with myelomeningocele.
Claudio A S Parisi, Natalia A Petriz, Julio N Busaniche, María C Cortines, Fernando A Frangi, Santiago A Portillo, Francisco I de Badiola. Arch Argent Pediatr 2016
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Neurodevelopmental outcome following prenatal diagnosis of an isolated anomaly of the corpus callosum.
R Mangione, N Fries, P Godard, C Capron, V Mirlesse, D Lacombe, M Duyme. Ultrasound Obstet Gynecol 2011
R Mangione, N Fries, P Godard, C Capron, V Mirlesse, D Lacombe, M Duyme. Ultrasound Obstet Gynecol 2011
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Diagnostic imaging of posterior fossa anomalies in the fetus.
Ashley James Robinson, M Ashraf Ederies. Semin Fetal Neonatal Med 2016
Ashley James Robinson, M Ashraf Ederies. Semin Fetal Neonatal Med 2016
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A novel mutation of NFIX causes Sotos-like syndrome (Malan syndrome) complicated with thoracic aortic aneurysm and dissection.
Tsukasa Oshima, Hironori Hara, Norifumi Takeda, Eriko Hasumi, Yukiko Kuroda, Go Taniguchi, Ryo Inuzuka, Kan Nawata, Hiroyuki Morita, Issei Komuro. Hum Genome Var 2017
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Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.